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PAH c.1111A>G ;(p.K371E)
Variant ID: 12-103237512-T-C
NM_000277.1(
PAH
):c.1111A>G;(p.K371E)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Phenylketonuria in the Latvian population: Molecular basis, phenylalanine levels, and patient compliance.
Molecular Genetics And Metabolism Reports
Kreile, M M; Lubina, O O; Ozola-Zalite, I I; Lugovska, R R; Pronina, N N; Sterna, O O; Vevere, P P; Konika, M M; Malniece, I I; Gailite, L L
Publication Date: 2020-12
Variant appearance in text: PAH: 1111A>G; Lys371Glu
PubMed Link:
33101986
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page